How to Test for DMD

Duchenne muscular dystrophy (DMD) is an inherited disorder of the muscles. It is the most common form of muscular dystrophy, which causes the muscles in the body to breakdown and become very weak. Other health problems associated with DMD include heart problems, scoliosis and obesity. DMD typically only affects males, and it occurs in one of out every 3,000 male births. The diagnosis of DMD can only be made by a physician, after a series of diagnostic evaluations.

Instructions

    • 1

      Visit a physician to have a full physical exam performed. The exam should include evaluation of the medical history and the movement abilities of the patient.

    • 2

      Visit a physician to have a blood test performed to look for elevated levels of creatine kinase. The levels of this enzyme will rise with muscle damage and can reveal the presence of DMD.

    • 3

      Have a muscle biopsy performed. During a muscle biopsy a small piece of muscle tissue is removed and evaluated microscopically. If DMD is present, there will be changes to the structure of the muscle cells. A special dye can also be used to stain the biopsy sample for confirmation of the presence of DMD-specific proteins.

    • 4

      Measure the electrical activity of the muscles with an electromyography (EMG) test. This test is used to confirm that muscle weakness is due to a muscle disease, rather than a nerve disorder.

    • 5

      Visit a physician to have genetic testing performed. Many muscular dystrophies, including DMD, can be definitively diagnosed by testing for the presence of mutated genes related to the illness.

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